Variant report

Variant	rs570855670
Chromosome Location	chr6:71997495-71997496
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NR3C1	chr6:71997458-71997786	A549	lung:	n/a	chr6:71997744-71997751
2	ZNF263	chr6:71997455-71999152	HEK293-T-REx	kidney:	n/a	chr6:71998405-71998414 chr6:71997726-71997735
3	POLR2A	chr6:71996908-71999723	Raji	blood:	n/a	n/a
4	KAP1	chr6:71997034-71998298	HEK293	kidney:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:71997462-71997512	T-47D	breast:	n/a
2	chr6:71997462-71997512	NH-A	brain:	n/a
3	chr6:71997462-71997512	ovcar-3	ovarian:	n/a
4	chr6:71997462-71997512	H1-hESC	embryonic stem cell:	embryo
5	chr6:71997462-71997512	Hepatocyte	liver:	n/a
6	chr6:71997462-71997512	AoSMC	blood vessel:	n/a
7	chr6:71997462-71997512	ProgFib	skin:	n/a
8	chr6:71997462-71997512	HRE	kidney:	n/a
9	chr6:71997462-71997512	NHBE	bronchial:	n/a
10	chr6:71997462-71997512	NT2-D1	testis:	n/a
11	chr6:71997462-71997512	GM19239	blood:	n/a
12	chr6:71997462-71997512	HRCEpiC	kidney:	n/a
13	chr6:71997462-71997512	AG04449	skin:	fetal
14	chr6:71997462-71997512	RPTEC	kidney:	n/a
15	chr6:71997462-71997512	HCT-116	colon:	n/a
16	chr6:71997462-71997512	AG09319	gingival:	n/a
17	chr6:71997462-71997512	AG09309	skin:	n/a
18	chr6:71997462-71997512	GM06990	blood:	n/a
19	chr6:71997462-71997512	GM12878	blood:	n/a
20	chr6:71997462-71997512	U87	brain:	n/a
21	chr6:71997462-71997512	HCM	heart:	n/a
22	chr6:71997462-71997512	SKMC	muscle:	n/a
23	chr6:71997462-71997512	A549	lung:	n/a
24	chr6:71997462-71997512	HCPEpiC	choroid plexus:	n/a
25	chr6:71997462-71997512	HEK293	kidney:	embryo
26	chr6:71997462-71997512	SAEC	small airway:	n/a
27	chr6:71997462-71997512	HMEC	breast:	n/a
28	chr6:71997462-71997512	MCF10A-Er-Src	breast:	n/a
29	chr6:71997462-71997512	HNPCEpiC	eye:	n/a
30	chr6:71997462-71997512	LNCaP	prostate:	n/a
31	chr6:71997462-71997512	HIPEpiC	eye:	n/a
32	chr6:71997462-71997512	NHDF-neo	bronchial:	n/a
33	chr6:71997462-71997512	SK-N-SH_RA	brain:	n/a
34	chr6:71997462-71997512	BE2_C	brain:	n/a
35	chr6:71997462-71997512	ECC-1	luminal epithelium:	n/a
36	chr6:71997462-71997512	PrEC	prostate:	n/a
37	chr6:71997462-71997512	AG04450	lung:	fetal
38	chr6:71997462-71997512	GM12892	blood:	n/a
39	chr6:71997462-71997512	CMK	blood:	n/a
40	chr6:71997462-71997512	PFSK-1	brain:	n/a
41	chr6:71997462-71997512	HEEpiC	esophagus:	n/a
42	chr6:71997462-71997512	Hela-S3	cervix:	n/a
43	chr6:71997462-71997512	HRPEpiC	eye:	n/a
44	chr6:71997462-71997512	Caco-2	colon:	n/a
45	chr6:71997462-71997512	HepG2	liver:	n/a
46	chr6:71997462-71997512	SK-N-SH	brain:	n/a
47	chr6:71997462-71997512	Jurkat	blood:	n/a
48	chr6:71997462-71997512	GM12891	blood:	n/a
49	chr6:71997462-71997512	PANC-1	pancreas:	n/a
50	chr6:71997462-71997512	IMR90	lung:	fetal

No data

Variant related genes	Relation type
ENSG00000232295	TF binding region
OGFRL1	TF binding region
ENSG00000232295	CpG island
OGFRL1	CpG island

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1837685	chr6:71997278-71998880	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	esv1792197	chr6:71997278-71999404	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	esv1818720	chr6:71997278-71999404	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	esv1830597	chr6:71997278-71999404	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	esv1795873	chr6:71997278-72005794	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	esv1841286	chr6:71997278-72006512	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	esv3424106	chr6:71997456-72000004	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:71988400-71997800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr6:71991600-71997800	Weak transcription	Lung	lung
3	chr6:71992000-71997800	Weak transcription	Esophagus	oesophagus
4	chr6:71994200-71997800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:71994800-71997600	Weak transcription	Pancreas	Pancrea
6	chr6:71994800-71997800	Weak transcription	Gastric	stomach
7	chr6:71995600-71997600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr6:71995800-71997600	Enhancers	Psoas Muscle	Psoas
9	chr6:71996200-71997600	Weak transcription	Spleen	Spleen
10	chr6:71996600-71997600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr6:71996600-71997600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr6:71996800-71997600	Enhancers	Primary T cells fromperipheralblood	blood
13	chr6:71996800-71997600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr6:71996800-71997800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr6:71996800-71997800	Enhancers	Fetal Thymus	thymus
16	chr6:71996800-71997800	Enhancers	Stomach Mucosa	stomach
17	chr6:71996800-71998000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
18	chr6:71996800-71998200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
19	chr6:71997000-71997600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr6:71997000-71997600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr6:71997000-71997600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr6:71997000-71997600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr6:71997000-71997600	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr6:71997000-71997600	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr6:71997000-71997600	Enhancers	Liver	Liver
26	chr6:71997000-71997600	Enhancers	Duodenum Mucosa	Duodenum
27	chr6:71997000-71997600	Enhancers	Rectal Mucosa Donor 31	rectum
28	chr6:71997000-71997600	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr6:71997000-71997600	Enhancers	GM12878-XiMat	blood
30	chr6:71997000-71997600	Enhancers	Hela-S3	cervix
31	chr6:71997000-71997600	Enhancers	Osteobl	bone
32	chr6:71997000-71997800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
33	chr6:71997000-71997800	Enhancers	Primary T killer memory cells from peripheral blood	blood
34	chr6:71997000-71997800	Enhancers	Muscle Satellite Cultured Cells	--
35	chr6:71997000-71997800	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr6:71997000-71997800	Enhancers	HMEC	breast
37	chr6:71997000-71998000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr6:71997000-71998000	Flanking Active TSS	NHDF-Ad	bronchial
39	chr6:71997000-71998400	Flanking Active TSS	Primary B cells from cord blood	blood
40	chr6:71997000-71998400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr6:71997000-71999800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr6:71997000-72002000	Active TSS	Brain Inferior Temporal Lobe	brain
43	chr6:71997200-71997600	Active TSS	ES-I3 Cell Line	embryonic stem cell
44	chr6:71997200-71997600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr6:71997200-71997600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
46	chr6:71997200-71997600	Enhancers	Brain Germinal Matrix	brain
47	chr6:71997200-71997600	Enhancers	Fetal Brain Male	brain
48	chr6:71997200-71997600	Flanking Active TSS	Thymus	Thymus
49	chr6:71997200-71997600	Enhancers	NHLF	lung
50	chr6:71997200-71997800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast

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